ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829530577
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000007806
RCV003315290
ClinVar Variation:
7381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Tyr284Cys
CA340673
NM_004518.5:c.851A>G